Silveira-Moriyama, 2013: Overview of all reported PxMD-PRRT2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
8
10
Yes
Dystonia
Athetosis
Attacks - trunk
Chorea
Attacks – bilateral
Attacks at rest
Trigger: Sudden movement
Show more (+4)
n.a.
p.Arg217*: het
Yes
n.a.
n.a.
10
57
Yes
Dystonia
Trigger: Sudden movement
Attacks – bilateral
Migraine (any subclass)
Hemiplegic migraine
Attacks at rest
Show more (+3)
n.a.
No
n.a.
n.a.
10
16
Yes
Attacks – bilateral
Dystonia
Trigger: Sudden movement
Attacks at rest
Show more (+1)
n.a.
Yes
n.a.
n.a.
11
17
No
Attacks at rest
Trigger: Sudden movement
Dystonia
n.a.
No
n.a.
n.a.
11
35
Yes
Attacks – bilateral
Trigger: Sudden movement
Attacks - face
Attacks at rest
Dystonia
Speech disturbance
Show more (+3)
n.a.
Yes
n.a.
n.a.
7
66
Yes
Attacks – bilateral
Trigger: Sudden movement
Attacks at rest
Athetosis
Dystonia
Show more (+2)
n.a.
Yes
n.a.
n.a.
9
29
No
Attacks - face
Attacks at rest
Athetosis
Dystonia
Attacks - neck
Trigger: Sudden movement
Show more (+3)
n.a.
Yes
n.a.
n.a.
5
14
Yes
Attacks at rest
Trigger: Sudden movement
Dystonia
Attacks - trunk
Attacks – bilateral
Show more (+2)
n.a.
p.Arg217*: het
Yes
n.a.
n.a.
9
16
Yes
Attacks at rest
Dystonia
Attacks - face
Epileptic seizures (of any type)
Trigger: Sudden movement
Show more (+2)
n.a.
Yes
n.a.
n.a.
5
19
Yes
Trigger: Sudden movement
Dystonia
Athetosis
Attacks – bilateral
Attacks at rest
Chorea
Attacks - neck
Show more (+4)
n.a.